Variant report

Variant	rs532170713
Chromosome Location	chr4:7943227-7943228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:50 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr4:7942750-7943434	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr4:7942645-7943600	ECC-1	luminal epithelium:	n/a	n/a
3	STAT3	chr4:7943066-7943263	MCF10A-Er-Src	breast:	n/a	n/a
4	TEAD4	chr4:7942709-7943468	ECC-1	luminal epithelium:	n/a	n/a
5	SP1	chr4:7942665-7943535	HCT-116	colon:	n/a	n/a
6	YY1	chr4:7942810-7943261	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr4:7942823-7943336	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr4:7943172-7943367	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:7943103-7943292	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr4:7942831-7943288	MCF-7	breast:	n/a	n/a
11	MAX	chr4:7942701-7943338	MCF-7	breast:	n/a	n/a
12	NR2F2	chr4:7942670-7943387	MCF-7	breast:	n/a	n/a
13	FOS	chr4:7943166-7943426	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr4:7942878-7943261	ECC-1	luminal epithelium:	n/a	n/a
15	HDAC2	chr4:7942822-7943333	MCF-7	breast:	n/a	n/a
16	POLR2A	chr4:7942858-7943248	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA3	chr4:7942688-7943385	MCF-7	breast:	n/a	n/a
18	MAX	chr4:7942656-7943891	A549	lung:	n/a	n/a
19	RXRA	chr4:7942772-7943441	SK-N-SH	brain:	n/a	n/a
20	MAX	chr4:7942623-7943342	ECC-1	luminal epithelium:	n/a	n/a
21	FOSL2	chr4:7942869-7943527	SK-N-SH	brain:	n/a	n/a
22	FOSL2	chr4:7943133-7943456	HepG2	liver:	n/a	n/a
23	TCF12	chr4:7942546-7943394	ECC-1	luminal epithelium:	n/a	chr4:7943201-7943208
24	NFIC	chr4:7942547-7943542	ECC-1	luminal epithelium:	n/a	n/a
25	FOSL2	chr4:7943021-7943498	A549	lung:	n/a	n/a
26	TEAD4	chr4:7942735-7943535	ECC-1	luminal epithelium:	n/a	n/a
27	SP1	chr4:7942813-7943342	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr4:7943186-7943397	Hela-S3	cervix:	n/a	n/a
29	MAX	chr4:7943030-7943343	Hela-S3	cervix:	n/a	n/a
30	ZNF263	chr4:7942918-7943352	HEK293-T-REx	kidney:	n/a	chr4:7943052-7943073 chr4:7943120-7943141
31	MAX	chr4:7942779-7943606	ECC-1	luminal epithelium:	n/a	n/a
32	FOS	chr4:7943193-7943312	MCF10A-Er-Src	breast:	n/a	n/a
33	RAD21	chr4:7942831-7943261	H1-hESC	embryonic stem cell:	n/a	n/a
34	TEAD4	chr4:7942843-7943227	H1-hESC	embryonic stem cell:	n/a	n/a
35	TEAD4	chr4:7942836-7943239	MCF-7	breast:	n/a	n/a
36	ZNF217	chr4:7942830-7943259	MCF-7	breast:	n/a	n/a
37	SP1	chr4:7942807-7943266	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFIC	chr4:7942969-7943453	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr4:7942635-7943394	MCF-7	breast:	n/a	n/a
40	HDAC2	chr4:7942798-7943294	MCF-7	breast:	n/a	n/a
41	SIN3AK20	chr4:7942775-7943478	MCF-7	breast:	n/a	n/a
42	ESR1	chr4:7942798-7943234	ECC-1	luminal epithelium:	n/a	n/a
43	MAZ	chr4:7943172-7943349	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr4:7942746-7943333	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr4:7942851-7943322	HCT-116	colon:	n/a	n/a
46	TFAP2C	chr4:7943160-7944319	Hela-S3	cervix:	n/a	chr4:7943614-7943629
47	SMC3	chr4:7943162-7943362	Hela-S3	cervix:	n/a	n/a
48	NR2F2	chr4:7942710-7943473	MCF-7	breast:	n/a	n/a
49	TCF12	chr4:7942716-7943492	ECC-1	luminal epithelium:	n/a	chr4:7943201-7943208
50	EP300	chr4:7942642-7943632	ECC-1	luminal epithelium:	n/a	n/a

No data

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:7941600-7944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
4	chr4:7941800-7943600	Enhancers	Fetal Heart	heart
5	chr4:7942000-7943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:7942000-7943400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:7942000-7943400	Enhancers	HMEC	breast
10	chr4:7942000-7943600	Enhancers	Osteobl	bone
11	chr4:7942000-7943800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:7942000-7943800	Enhancers	Adipose Nuclei	Adipose
13	chr4:7942000-7943800	Enhancers	Pancreas	Pancrea
14	chr4:7942000-7943800	Enhancers	Stomach Mucosa	stomach
15	chr4:7942000-7943800	Enhancers	HepG2	liver
16	chr4:7942000-7943800	Enhancers	HSMM	muscle
17	chr4:7942000-7944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7942000-7944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:7942000-7944200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7942000-7944200	Enhancers	Fetal Intestine Large	intestine
21	chr4:7942000-7944200	Enhancers	NHDF-Ad	bronchial
22	chr4:7942000-7944400	Enhancers	Fetal Intestine Small	intestine
23	chr4:7942000-7944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:7942000-7945200	Enhancers	A549	lung
25	chr4:7942000-7945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:7942000-7945400	Enhancers	Placenta	Placenta
27	chr4:7942000-7945400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:7942000-7946200	Weak transcription	Liver	Liver
29	chr4:7942000-7946400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:7942000-7946400	Weak transcription	Fetal Stomach	stomach
31	chr4:7942000-7950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:7942200-7943400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:7942200-7943400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:7942200-7943600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:7942200-7943800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:7942200-7944000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:7942200-7944000	Enhancers	NHEK	skin
40	chr4:7942200-7944800	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:7942200-7947400	Weak transcription	Fetal Brain Male	brain
42	chr4:7942200-7950600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:7942600-7943400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:7942600-7943400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:7942600-7943400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr4:7942600-7943400	Enhancers	Spleen	Spleen
47	chr4:7942600-7943800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:7942600-7944000	Enhancers	Colonic Mucosa	Colon
49	chr4:7942600-7944200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:7942600-7944200	Enhancers	Duodenum Mucosa	Duodenum

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